Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Phosphoenolpyruvate carboxykinase deficiency

Orpha number ORPHA2880
Synonym(s) PEPCK deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Mitochondrial inheritance
Age of onset Infancy
Neonatal
ICD-10
  • E74.4
ICD-O -
OMIM
UMLS
  • C0268194
MeSH
  • C536654
MedDRA -
SNOMED CT
  • 5335002

Summary

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.